caa a22 4500 445811269 CHVBK 20180317145212.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s00415-011-6066-1 doi (NATIONALLICENCE)springer-10.1007/s00415-011-6066-1 Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case [Elektronische Daten] [Paola Piscopo, Giuseppina Talarico, Lorenzo Malvezzi-Campeggi, Alessio Crestini, Roberto Rivabene, Marina Gasparini, Giuseppe Tosto, Nicola Vanacore, Gian Lenzi, Giuseppe Bruno, Annamaria Confaloni] Mutations in the presenilin 2 (PSEN2) gene are less commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 1 (PSEN1) genes. In fact, only 23 different mutations in the PSEN2 gene have been described in the literature. This paper deals with a sporadic case of a 55year-old subject bearing an amino acid substitution from arginine to tryptophan at codon 71 of PSEN2 and presenting a peculiar early-onset Alzheimer's disease phenotype. Springer-Verlag, 2011 Genetics nationallicence Mutation nationallicence Presenilins nationallicence Early-onset Alzheimer's disease nationallicence Piscopo Paola Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut Talarico Giuseppina Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut Malvezzi-Campeggi Lorenzo Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut Crestini Alessio Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut Rivabene Roberto Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut Gasparini Marina Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut Tosto Giuseppe Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut Vanacore Nicola National Centre for Epidemiology, Surveillance and Health Promotion, Istituto Superiore di Sanità, Rome, Italy aut Lenzi Gian Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut Bruno Giuseppe Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut Confaloni Annamaria Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut Journal of Neurology Springer-Verlag 258/11(2011-11-01), 2043-2047 0340-5354 258:11<2043 2011 258 415 https://doi.org/10.1007/s00415-011-6066-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6066-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Piscopo Paola Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut NATIONALLICENCE 700 1- Talarico Giuseppina Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- Malvezzi-Campeggi Lorenzo Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut NATIONALLICENCE 700 1- Crestini Alessio Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut NATIONALLICENCE 700 1- Rivabene Roberto Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut NATIONALLICENCE 700 1- Gasparini Marina Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- Tosto Giuseppe Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- Vanacore Nicola National Centre for Epidemiology, Surveillance and Health Promotion, Istituto Superiore di Sanità, Rome, Italy aut NATIONALLICENCE 700 1- Lenzi Gian Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- Bruno Giuseppe Department of Neurology and Psychiatry, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- Confaloni Annamaria Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/11(2011-11-01), 2043-2047 0340-5354 258:11<2043 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer